Variant report

Variant	rs59478831
Chromosome Location	chr19:36397779-36397780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr19:36397738-36398033	GM12878	blood:	n/a	chr19:36397895-36397906
2	MAX	chr19:36397772-36398292	K562	blood:	n/a	n/a
3	CBX3	chr19:36397760-36398289	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36389776..36392991-chr19:36393581..36401271,10	K562	blood:

Variant related genes	Relation type
NFKBID	TF binding region
ENSG00000167604	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1057265	0.90[EUR][1000 genomes]
rs11878444	0.90[EUR][1000 genomes]
rs11878880	0.82[EUR][1000 genomes]
rs11879537	0.86[EUR][1000 genomes]
rs11881157	0.86[EUR][1000 genomes]
rs11882386	0.81[EUR][1000 genomes]
rs13382036	0.86[EUR][1000 genomes]
rs2242590	0.90[EUR][1000 genomes]
rs34933126	0.89[EUR][1000 genomes]
rs56744930	0.89[EUR][1000 genomes]
rs56922307	0.81[EUR][1000 genomes]
rs57068163	0.81[EUR][1000 genomes]
rs57094555	0.81[EUR][1000 genomes]
rs57412339	0.85[EUR][1000 genomes]
rs57516855	0.95[EUR][1000 genomes]
rs57962062	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58161969	0.81[EUR][1000 genomes]
rs58291714	0.85[ASN][1000 genomes]
rs58504183	0.85[EUR][1000 genomes]
rs58551711	0.85[EUR][1000 genomes]
rs58976020	0.86[EUR][1000 genomes]
rs59399698	0.95[EUR][1000 genomes]
rs59416903	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59534183	0.95[EUR][1000 genomes]
rs60073802	0.81[EUR][1000 genomes]
rs60935148	0.85[EUR][1000 genomes]
rs61660311	0.81[EUR][1000 genomes]
rs61672461	0.89[EUR][1000 genomes]
rs7246259	0.86[EUR][1000 genomes]
rs7246541	0.86[EUR][1000 genomes]
rs7247000	0.86[EUR][1000 genomes]
rs7252526	0.86[EUR][1000 genomes]
rs7253086	0.85[EUR][1000 genomes]
rs7254335	0.86[EUR][1000 genomes]
rs7256280	0.89[EUR][1000 genomes]
rs7256433	0.85[EUR][1000 genomes]
rs7257911	0.86[EUR][1000 genomes]
rs7258914	0.86[EUR][1000 genomes]
rs7260613	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73590883	0.89[EUR][1000 genomes]
rs73590895	0.85[EUR][1000 genomes]
rs73599539	0.81[EUR][1000 genomes]
rs73599540	0.81[EUR][1000 genomes]
rs73599546	0.81[EUR][1000 genomes]
rs73599554	0.86[EUR][1000 genomes]
rs73599561	0.89[EUR][1000 genomes]
rs73599565	0.81[EUR][1000 genomes]
rs73599577	0.81[EUR][1000 genomes]
rs73599586	0.89[EUR][1000 genomes]
rs73599600	0.85[EUR][1000 genomes]
rs73599602	0.81[EUR][1000 genomes]
rs8110868	0.81[EUR][1000 genomes]
rs909135	0.85[EUR][1000 genomes]
rs909136	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36392000-36398000	Weak transcription	Brain Angular Gyrus	brain
2	chr19:36392200-36398600	Weak transcription	Right Atrium	heart
3	chr19:36394000-36398000	Weak transcription	Brain Hippocampus Middle	brain
4	chr19:36394400-36398400	Weak transcription	Brain Substantia Nigra	brain
5	chr19:36394600-36397800	Weak transcription	Liver	Liver
6	chr19:36394600-36398000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:36394800-36397800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr19:36394800-36397800	Weak transcription	Right Ventricle	heart
9	chr19:36394800-36398000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:36394800-36398200	Weak transcription	Colonic Mucosa	Colon
11	chr19:36394800-36398400	Weak transcription	Pancreas	Pancrea
12	chr19:36394800-36404000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:36395000-36398000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr19:36395000-36398000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:36395000-36398000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:36395000-36398000	Weak transcription	HSMM	muscle
17	chr19:36395000-36398200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:36395000-36398200	Weak transcription	Gastric	stomach
19	chr19:36395000-36398400	Weak transcription	Lung	lung
20	chr19:36395000-36398400	Weak transcription	Spleen	Spleen
21	chr19:36395000-36398600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr19:36395000-36400000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:36395000-36400200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:36395000-36402800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:36395200-36397800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr19:36395200-36398000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr19:36395200-36398000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:36395200-36398600	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
29	chr19:36395200-36398600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
30	chr19:36395200-36399800	Weak transcription	Dnd41	blood
31	chr19:36395200-36400200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr19:36395600-36398000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr19:36395600-36400200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:36395600-36401600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr19:36396000-36398800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
36	chr19:36396200-36398400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr19:36396200-36399000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr19:36396200-36399400	Weak transcription	Primary T cells from cord blood	blood
39	chr19:36396400-36397800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr19:36396400-36398000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:36396400-36398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:36396400-36398000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:36396400-36398000	Weak transcription	NHLF	lung
44	chr19:36396400-36398400	Weak transcription	Fetal Thymus	thymus
45	chr19:36396400-36398600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr19:36396400-36398800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr19:36396400-36399200	Weak transcription	Thymus	Thymus
48	chr19:36396400-36399800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:36396400-36399800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr19:36396400-36400000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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